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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

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Related Experiment Video

Updated: Jul 7, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

SNP-finding in pig mitochondrial ESTs.

K Scheibye-Alsing1, S Cirera, M J Gilchrist

  • 1Division of Genetics and Bioinformatics, IBHV, University of Copenhagen, Grønnegårdsvej 3, DK-1870 Frederiksberg, Denmark.

Animal Genetics
|February 12, 2008
PubMed
Summary
This summary is machine-generated.

Researchers identified 112 high-confidence pig mitochondrial single nucleotide polymorphisms (SNPs) from expressed sequence tags (ESTs). Eight of nine tested SNPs were confirmed, offering valuable genetic markers for pig research.

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Area of Science:

  • Genomics
  • Animal Genetics
  • Bioinformatics

Background:

  • The Sino-Danish pig genome project generated a large dataset of expressed sequence tags (ESTs).
  • A significant portion of these ESTs originated from the pig mitochondrial genome, presenting an opportunity for genetic analysis.

Purpose of the Study:

  • To assemble mitochondrial ESTs from the pig genome project.
  • To identify and validate single nucleotide polymorphisms (SNPs) within the pig mitochondrial genome.

Main Methods:

  • Assembly of mitochondrial expressed sequence tags (ESTs).
  • Bioinformatic analysis to detect putative single nucleotide polymorphisms (SNPs).
  • Manual inspection of chromatograms for SNP validation.
  • Experimental confirmation of high-confidence SNPs.

Main Results:

  • Assembly of mitochondrial ESTs yielded 374 putative SNPs.
  • Manual inspection and validation identified 112 high-confidence SNPs, including 52 non-synonymous variants.
  • Eight out of nine experimentally tested SNPs were confirmed, demonstrating high reliability.
  • Some identified SNPs showed proximity to human disease-associated SNPs.

Conclusions:

  • A robust set of 112 high-confidence mitochondrial SNPs has been identified in pigs.
  • These validated SNPs represent valuable genetic markers for pig genomics and breeding.
  • The identified SNPs are accessible online for broader research use.